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    Alström syndrome

    Alström syndrome is a very rare disease passed down through families (inherited)that can lead to blindness, deafness, diabetes, and obesity.


    Alström syndrome isinherited in anautosomal recessive manner. This means both your parents must pass on a copy of the defective gene (ALMSI)in order for you to have this disease.

    It is unknown how the defective genecauses the disorder.

    The condition is extremely rare. It is more common in Holland and Sweden than in the United States.


    • Blindness or severe vision impairment in infancy
    • Dark patches of skin (acanthosis nigricans)
    • Deafness
    • Impaired heart function (cardiomyopathy), which may lead to heart failure
    • Obesity
    • Progressive kidney failure
    • Slowed growth
    • Symptoms of childhood-onset or type 2 diabetes

    Occasionally, the following can also occur:

    • Gastrointestinal reflux
    • Hypothyroidism
    • Liver dysfunction
    • Small penis

    Exams and Tests

    An eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.

    Tests may be done to check:

    • Blood sugar levels (to diagnose hyperglycemia)
    • Hearing
    • Heart function
    • Thyroid function
    • Triglyceride levels


    There is no specific treatment for this syndrome. Treatment for symptoms may include:

    • Diabetes medication
    • Hearing aids
    • Heart medications
    • Thyroid hormone replacement

    Support Groups

    Alström Syndrome International --

    Outlook (Prognosis)

    The following are likely to develop:

    • Deafness
    • Permanent blindness
    • Type 2 diabetes

    Kidney and liver failure may get worse.

    Possible Complications

    • Complications from diabetes
    • Coronary artery disease (from diabetes and high cholesterol)
    • Fatigue and shortness of breath (if poor heart function isn't treated)

    When to Contact a Medical Professional

    Call your health care provider if you or your child have symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you think that your child cannot see or hear normally.


    Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Taal MW, Chertow GM, Marsden PA, et al, eds. Brenner and Rector's The Kidney. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 45.


          A Closer Look

            Self Care

              Tests for Alström syndrome

                Review Date: 8/1/2012

                Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.

                The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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                St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
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